HOXA1
Function
Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity).
Involvement in disease
Athabaskan brainstem dysgenesis syndrome
ABDS
Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Bosley-Salih-Alorainy syndrome
BSAS
A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Antp homeobox family. Labial subfamily.
Cellular localization
- Nucleus
Alternative names
HOX1F, HOXA1, Homeobox protein Hox-A1, Homeobox protein Hox-1F